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1. Full Text Lighting a candle in the dark: advances in genetics and gene therapy of recessive retinal dystrophies
by Hollander, A.I. den and Black, A and Bennett, J and Cremers, F.P.M
The Journal of clinical investigation, ISSN 0021-9738, 2010, Volume 120, Issue 9, pp. 3042 - 3053
Life Sciences & Biomedicine | Medicine, Research & Experimental | Science & Technology | Research & Experimental Medicine | Eye - pathology | Retinal Diseases - genetics | Retina - metabolism | Genetic Testing | Genes | Humans | Retinal Diseases - therapy | Retinal Diseases - metabolism | Lighting | Eye Proteins - genetics | Transgenes | cis-trans-Isomerases | Disease Models, Animal | Gene Transfer Techniques | Cats | Eye - anatomy & histology | Genes, Recessive | Retinaldehyde - genetics | Mice, Knockout | Carrier Proteins - genetics | Animals | Dogs | Mice | Mutation | Genetic Therapy - methods | Care and treatment | Gene mutations | Retinal degeneration | Genetic aspects | Research | Gene therapy | Health aspects | Index Medicus | Abridged Index Medicus | Review
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2. Full Text Non-syndromic retinal ciliopathies: translating gene discovery into therapy
by Estrada-Cuzcano, A and Roepman, R and Cremers, F.P and den Hollander, A.I and Mans, D.A
Human molecular genetics, ISSN 0964-6906, 2012, Volume 21, Issue 1, pp. R111 - 24
Biochemistry & Molecular Biology | Genetics & Heredity | Life Sciences & Biomedicine | Science & Technology | Fundamental and applied biological sciences. Psychology | Biotechnology | Health. Pharmaceutical industry | Industrial applications and implications. Economical aspects | Biological and medical sciences | Molecular and cellular biology | Genetics of eukaryotes. Biological and molecular evolution | Gene therapy | Leber Congenital Amaurosis - pathology | Genetic Therapy | Genetic Variation | Vision, Ocular - physiology | Biological Transport | Photoreceptor Cells - pathology | Leber Congenital Amaurosis - therapy | Disease Models, Animal | Cilia - pathology | Genetic Association Studies | Retinal Degeneration - genetics | Retinitis Pigmentosa - genetics | Zebrafish | Leber Congenital Amaurosis - genetics | Cilia - genetics | Vision, Ocular - genetics | Animals | Macular Degeneration - genetics | Macular Degeneration - therapy | Retinitis Pigmentosa - therapy | Retinal Degeneration - therapy | Dogs | Mice | Retinal Degeneration - pathology | Retinitis Pigmentosa - pathology | Macular Degeneration - pathology | Index Medicus
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3. Full Text Family-based exome sequencing identifies rare coding variants in age-related macular degeneration
by Ratnapriya, R and Acar, I.E and Geerlings, M.J and Branham, K and Kwong, A and Saksens, N.T.M and Pauper, M and Corominas, J and Kwicklis, M and Zipprer, D and Starostik, M.R and Othman, M and Yashar, B and Abecasis, G.R and Chew, E.Y and Ferrington, D.A and Hoyng, C.B and Swaroop, A and Hollander, A.I. den
Human molecular genetics, ISSN 0964-6906, 2020, Volume 29, Issue 12, pp. 2022 - 2034
Biochemistry & Molecular Biology | Genetics & Heredity | Life Sciences & Biomedicine | Science & Technology | Index Medicus | AcademicSubjects | General | SCI01140
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4. Full Text Mutations in the CEP290 ( NPHP6) Gene Are a Frequent Cause of Leber Congenital Amaurosis
by den Hollander, Anneke I and Koenekoop, Robert K and Yzer, Suzanne and Lopez, Irma and Arends, Maarten L and Voesenek, Krysta E.J and Zonneveld, Marijke N and Strom, Tim M and Meitinger, Thomas and Brunner, Han G and Hoyng, Carel B and van den Born, L. Ingeborgh and Rohrschneider, Klaus and Cremers, Frans P.M
American journal of human genetics, ISSN 0002-9297, 2006, Volume 79, Issue 3, pp. 556 - 561
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | General aspects. Genetic counseling | Biological and medical sciences | Medical sciences | Ophthalmology | Retinopathies | Medical genetics | Antigens, Neoplasm - genetics | Alternative Splicing | RNA Splice Sites - genetics | Humans | Exons - genetics | Optic Atrophy, Hereditary, Leber - genetics | Homozygote | Optic Atrophy, Hereditary, Leber - pathology | Pedigree | Alleles | Consanguinity | Mutation | Neoplasm Proteins - genetics | Chromosomes, Human, Pair 12 - genetics | Gene mutations | Centrosomes | Causes of | Genetic aspects | Leber's congenital amaurosis | Research | Health aspects | Risk factors | Congenital diseases | Genetic disorders | Genes | Blindness | Children & youth | Index Medicus | Report
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5. Full Text Omics in Ophthalmology: Advances in Genomics and Precision Medicine for Leber Congenital Amaurosis and Age-Related Macular Degeneration
by Hollander, A.I. den
Investigative ophthalmology & visual science, ISSN 0146-0404, 2016, Volume 57, Issue 3, pp. 1378 - 1387
Retinal degeneration | Gene therapy | Genetic diseases | Age-related macular degeneration | Retinal dystrophy | Life Sciences & Biomedicine | Ophthalmology | Science & Technology | Genetic Testing | Macular Degeneration - genetics | Humans | Genotype | Leber Congenital Amaurosis - diagnosis | Leber Congenital Amaurosis - genetics | Genomics - methods | Macular Degeneration - diagnosis | Precision Medicine - methods | Index Medicus
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6. Full Text Mutations in IFT172 cause isolated retinal degeneration and Bardet-Biedl syndrome
by Bujakowska, K.M and Zhang, Q and Siemiatkowska, A.M and Liu, Q and Place, E and Falk, M.J and Consugar, M and Lancelot, M.E and Antonio, A and Lonjou, C and Carpentier, W and Mohand-Said, S and Hollander, A.I. den and Cremers, F.P.M and Leroy, B.P and Gai, X and Sahel, J.A and Born, L.I. van den and Collin, R.W.J and Zeitz, C and Audo, I and Pierce, E.A
Human molecular genetics, ISSN 0964-6906, 2015, Volume 24, Issue 1, pp. 230 - 242
Biochemistry & Molecular Biology | Genetics & Heredity | Life Sciences & Biomedicine | Science & Technology | Retina - metabolism | Humans | Cells, Cultured | Rats | Retinitis Pigmentosa - genetics | Male | Zebrafish | Sequence Analysis, DNA | Exome | Young Adult | Carrier Proteins - genetics | Animals | Pedigree | Bardet-Biedl Syndrome - pathology | Adolescent | Adult | Bardet-Biedl Syndrome - genetics | Female | High-Throughput Nucleotide Sequencing | Mutation | Retina - pathology | Retinitis Pigmentosa - pathology | Index Medicus | Life Sciences | Biochemistry, Molecular Biology | Genomics
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7. Full Text Genetic Variants and Systemic Complement Activation Levels Are Associated With Serum Lipoprotein Levels in Age-Related Macular Degeneration
by Paun, C.C and Ersoy, L and Schick, T and Groenewoud, J.M.M and Lechanteur, Y.T.E and Fauser, S and Hoyng, C.B and Jong, E.K. de and Hollander, A.I. den
Investigative ophthalmology & visual science, ISSN 0146-0404, 2015, Volume 56, Issue 13, pp. 7766 - 7773
AMD | Lipids | Complement system | Lipoprotein | SNP | Life Sciences & Biomedicine | Ophthalmology | Science & Technology | Macular Degeneration - physiopathology | Lipoproteins, HDL - blood | Humans | Risk Factors | Genotype | Male | Macular Degeneration - blood | Case-Control Studies | Genetic Variation | Complement Activation - genetics | Macular Degeneration - genetics | Lipids - blood | Triglycerides - blood | Cholesterol, HDL - blood | Female | Aged | Polymorphism, Single Nucleotide | Complement Factor H - genetics | Index Medicus
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